Canonical Allele Identifier: CA387460656

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763040T>A (hg19) ; chr13:g.20188901T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188901T>A , CM000675.2:g.20188901T>A	GRCh38
NC_000013.10:g.20763040T>A , CM000675.1:g.20763040T>A	GRCh37
NC_000013.9:g.19661040T>A	NCBI36
NG_008358.1:g.9075A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.681A>T	ENSP00000372295.1:p.Ter227Tyr
ENST00000382848.5:c.681A>T MANE Select	ENSP00000372299.4:p.Ter227Tyr
ENST00000382844.1:c.681A>T	ENSP00000372295.1:p.Ter227Tyr
ENST00000382848.4:c.681A>T	ENSP00000372299.4:p.Ter227Tyr
NM_004004.5:c.681A>T	NP_003995.2:p.Ter227Tyr
XM_011535049.1:c.681A>T	XP_011533351.1:p.Ter227Tyr
XM_011535049.2:c.681A>T	XP_011533351.1:p.Ter227Tyr
NM_004004.6:c.681A>T MANE Select	NP_003995.2:p.Ter227Tyr